This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for UNC13D:c.3160A>G, p.Ile1054Val

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73824159	75828078

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.3160A>G

PROTEIN CHANGE

p.Ile1054Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00052	0.0002844	0.0001088	0.0	0.0	0.0002404	0.001115	0.0002053	0.0

ESP
AA	EA
0.0002296	0.0002339

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.681677	Polymorphism

DBSNP ID

1 combination linked to UNC13D:c.3160A>G, p.Ile1054Val

1 disease linked to UNC13D:c.3160A>G, p.Ile1054Val

Familial hemophagocytic lymphohistiocytosis

Found any issues with the data on this page? Report this entry.